T23A (p.Thr23Ala) variant of BMPR2 (Q13873)
T23A (p.Thr23Ala) in BMPR2 (Q13873) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1; Primary p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T23A (p.Thr23Ala) variant details
- p.Thr23Ala
- rs141716313
- ClinGen CA2061007
- cosmic curated COSV10971
- ClinVar RCV003596750
- Benign/Likely benign
- Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1; Primary p
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.34
- CADD 7.67
- PolyPhen-2 0.00
- SIFT 0.94
- ClinVar: Benign/Likely benign (Pulmonary hypertension, primary, 1; Pulmonary venoocclusive dise)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CEU population (allele frequency 0.0084)
- Structural context available
- Cited in: Heritable Pulmonary Arterial Hypertension Overview. (PMID 20301658)